ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3279_3282del (p.Asn1094fs)

dbSNP: rs879254281
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236873 SCV000294048 likely pathogenic not provided 2016-03-14 criteria provided, single submitter clinical testing This apparently mosaic deletion of 4 nucleotides in ATM is denoted c.3279_3282delCAAT at the cDNA level and p.Asn1094AspfsX14 (N1094DfsX14) at the protein level. The normal sequence, with the bases that are deleted in braces, is CAAT{CAAT}AGgt. The deletion causes a frameshift which changes an Asparagine to an Aspartic Acid at codon 1094, and creates a premature stop codon at position 14 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this deletion to be a likely pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001389763 SCV001591216 pathogenic Ataxia-telangiectasia syndrome 2023-06-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 246478). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn1094Aspfs*14) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872).
Ambry Genetics RCV002321907 SCV002606499 pathogenic Hereditary cancer-predisposing syndrome 2021-05-10 criteria provided, single submitter clinical testing The c.3279_3282delCAAT pathogenic mutation, located in coding exon 21 of the ATM gene, results from a deletion of 4 nucleotides at nucleotide positions 3279 to 3282, causing a translational frameshift with a predicted alternate stop codon (p.N1094Dfs*14). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Fulgent Genetics, Fulgent Genetics RCV005049503 SCV005681261 likely pathogenic Familial cancer of breast; Ataxia-telangiectasia syndrome 2024-01-12 criteria provided, single submitter clinical testing

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